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A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father.
Olga S, Natalia S, Igor B, Alena C, Ekaterina Z, Oksana R, Zhanna M, Nadezhda S, Aleksander P. Olga S, et al. Among authors: aleksander p. J Genet. 2020;99:29. J Genet. 2020. PMID: 32482918 Free article.
A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.
Shchagina O, Bessonova L, Bychkov I, Beskorovainaya T, Poliakov A. Shchagina O, et al. Among authors: poliakov a. Genes (Basel). 2020 Jul 19;11(7):821. doi: 10.3390/genes11070821. Genes (Basel). 2020. PMID: 32707643 Free PMC article.
Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy.
Mironovich O, Dadali E, Malmberg S, Markova T, Ryzhkova O, Poliakov A. Mironovich O, et al. Among authors: poliakov a. Genes (Basel). 2020 Oct 22;11(11):1238. doi: 10.3390/genes11111238. Genes (Basel). 2020. PMID: 33105646 Free PMC article.